Details for PAX4:c.575G>A, p.Arg192His

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
127253550127613496
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PAX4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_006193.2
CDNA CHANGE c.575G>A
PROTEIN CHANGE p.Arg192His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01980.00.00.09820.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0082046.152e-050.00011560.00.11050.00.00.0027690.0002613

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.208696Polymorphism
DBSNP ID rs2233580
1 combination linked to PAX4:c.575G>A, p.Arg192His OLI132
2 diseases linked to PAX4:c.575G>A, p.Arg192His MODY; Normosmic congenital hypogonadotropic hypogonadism
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